Ataxia and hereditary disorders

Paulson, Henry L.; Ammache, Zakaria

doi:10.1016/s0733-8619(05)70044-x

Cited by 41 publications

(33 citation statements)

References 55 publications

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“…The recognition of familial ataxia syndromes paved the way for the identification of genetic loci and causative mutations for ADCAs, resulting in the current SCA classification [77,82,121,133,163,197] (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Brain pathology of spinocerebellar ataxias

et al. 2012

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The autosomal dominant cerebellar ataxias (ADCAs) represent a heterogeneous group of neurodegenerative diseases with progressive ataxia and cerebellar degeneration. The current classification of this disease group is based on the underlying genetic defects and their typical disease courses. According to this categorization, ADCAs are divided into the spinocerebellar ataxias (SCAs) with a progressive disease course, and the episodic ataxias (EA) with episodic occurrences of ataxia. The prominent disease symptoms of the currently known and genetically defined 31 SCA types result from damage to the cerebellum and interconnected brain grays and are often accompanied by more specific extra-cerebellar symptoms. In the present review, we report the genetic and clinical background of the known SCAs and present the state of neuropathological investigations of brain tissue from SCA patients in the final disease stages. Recent findings show that the brain is commonly seriously affected in the polyglutamine SCAs (i.e. SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17) and that the patterns of brain damage in these diseases overlap considerably in patients suffering from advanced disease stages. In the more rarely occurring non-polyglutamine SCAs, post-mortem neuropathological data currently are scanty and investigations have been primarily performed in vivo by means of MRI brain imaging. Only a minority of SCAs exhibit symptoms and degenerative patterns allowing for a clear and unambiguous diagnosis of the disease, e.g. retinal degeneration in SCA7, tau aggregation in SCA11, dentate calcification in SCA20, protein depositions in the Purkinje cell layer in SCA31, azoospermia in SCA32, and neurocutaneous phenotype in SCA34. The disease proteins of polyglutamine ataxias and some non-polyglutamine ataxias aggregate as cytoplasmic or intranuclear inclusions and serve as morphological markers. Although inclusions may impair axonal transport, bind transcription factors, and block protein quality control, detailed molecular and pathogenetic consequences remain to be determined.

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Section: Discussionmentioning

confidence: 99%

Brain pathology of spinocerebellar ataxias

et al. 2012

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“…The clinical manifestations of SCA3 and SCA6 provide a striking example: in SCA3 gaze paresis, brainstem, pyramidal signs, dystonia and peripheral neuropathy usually accompany cerebellar ataxia, while SCA6 is typically associated with a pure cerebellar syndrome [28,41]. This is also reflected in the imaging appearances, which reveal widespread atrophy in SCA3 and more focal cerebellar shrinkage in SCA6 [e. g. 33,37,38].…”

Section: Introductionmentioning

confidence: 99%

Cognitive and social cognitive functioning in spinocerebellar ataxia

Garrard

Martin

Giunti³

et al. 2008

J Neurol

106

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The data support the hypothesis that the cerebellum is important for cognitive as well as motor activity. The pattern of overlap of domain impairments provides tentative preliminary evidence that there is a cerebellar contribution to aspects of memory and executive function and ToM, and that other domains depend more on neural system outside the cerebellum. The findings relating to ToM are relevant to the possibility of cerebellar involvement in autism.

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“…It thus appears wiser to identify them by their SCA designation. 12 Patients in this family present a distinct and slowly progressive ataxia syndrome with extrapyramidal signs such a tremor, akinesia, and rigidity that prompt us to classify this kindred as ADCA type I. The signs that are specifically associated with other pure cerebellar ataxia such as seizures in SCA10, 13 mental retardation in SCA13, 14 myoclonus in SCA14, 15 and essential head tremor in SCA16 16 did not represent specific features of our disease.…”

Section: Discussionmentioning

confidence: 87%

A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3‐p15.1

Vuillaume

Devos²,

Schraen

et al. 2002

Annals of Neurology

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We investigated a French family with a new type of autosomal dominant spinocerebellar ataxia that was excluded from all previously identified genes and loci. The patients exhibited a slowly progressive gait and limb ataxia variably associated with akinesia, rigidity, tremor, and hyporeflexia. A mild cognitive impairment also was observed in some cases. We performed a genomewide search and found significant evidence for linkage to chromosome 7p21.3-p15.1. Analysis of key recombinants and haplotype reconstruction traced this novel spinocerebellar ataxia locus to a 24cM interval flanked by D7S2464 and D7S516.

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Ataxia and hereditary disorders

Cited by 41 publications

References 55 publications

Brain pathology of spinocerebellar ataxias

Brain pathology of spinocerebellar ataxias

Cognitive and social cognitive functioning in spinocerebellar ataxia

A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3‐p15.1

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